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Article

Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.

American journal of human genetics - 1 Aug 2007

Maertens Ophélia, De Schepper Sofie, Vandesompele Jo, Brems Hilde, Heyns Ine, Janssens Sandra, Speleman Frank, Legius Eric, Messiaen Ludwine

Abstract excerpt

Elucidation of the biological framework underlying the development of neurofibromatosis type 1 (NF1)-related symptoms has proved to be difficult. Complicating factors include the large size of the NF1 gene, the presence of several NF1 pseudogenes, the complex interactions between cell types, and the NF1-haploinsufficient state of all cells in the body. Here, we investigate three patients with distinct...

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Source

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Identifiers

PMID: 17668375
DOI: 10.1086/519562
PMCID: PMC1950809

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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